TABLE 1.
Comparison of clinical features in patients with KDELR2‐related osteogenesis imperfecta
| This study | Published in van Dijk et al., 2020 | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Individual | P1 | P2 | P3 | P1 | P2‐1 | P2‐2 | P3 | P4‐1 | P4‐2 |
| Ethinicity | Pakistani | Pakistani | Turkish | Pakistani | Dutch | Dutch | Spanish | Dutch | Dutch |
| GeneVariant (NM_006854) | c.13C > T (p.Arg5Trp) hmz | c.13C > T (p.Arg5Trp) hmz | c.485A > G (p.Tyr162Cys) hmz | c.448dupC (p.His150fs*24), hmz | c.34C > G (p.His12Asp), hmz | N/A | c.398C > T (p.Pro133Leu), hmz | c.34C > G (p.His12Asp), c.360G > A (p.Trp120*) | c.34C > G (p.His12Asp), c.360G > A (p.Trp120*) |
| Age, first assessement | 4 years 5 months | 15 months | 24 days | 5 years | 29 years | N/A | 1.5 mo | 24 weeks of gestation | N/A |
| Age, last assessment | 6 years | 2 years 8 months | 4 years 3 months | 14 years | 39 years | N/A | 43 years | N/A | N/A |
| OFC, first assessment (cm, Z‐score) | 47 cm (−2.5) | 43 cm (−2.3) | N/A | ||||||
| Height, last assessment (cm, Z‐score) | 77 cm (−3.1) | 66.5 cm (−5.2) | 83.5 cm (−3) | 130 (−4.0) | 121 (N/A) | 115 (N/A) | 138 (N/A) | N/A | N/A |
| Weight, last assessment (kg, Z‐score) | 10 kg (−3.9) | 7 kg (−4.1) | 10.2 kg (−3.5) | N/A | N/A | N/A | N/A | N/A | N/A |
| OFC, last assessment (cm, Z‐score) | N/A | N/A | 50.5 cm (1.1) | N/A | N/A | N/A | N/A | N/A | N/A |
| Prenatal fractures | U | U | + | − | − | − | − | + | + |
| Wormian bones | + | + | + | − | U | U | + | N/A | N/A |
| Age at first fracture | 1 year | N/A | 21 days | 40 | 32 | U | 24 | In utero | In utero |
| Estimated number of sustained fractures | 4 | 0 | >2 | N = 12 | N = 26 | N = 15 aged 25 years | N > 30 | N/A | N/A |
| Last sustained fracture | 4 years 5 months | N/A | 4 years | right femur age 10 years | right femur age 28 and right femoral neck age 29 | U | right femur, age 37 | N/A | N/A |
| Color of sclera | White | Blue | Blue | White | White | White | White | U | U |
| Dentinogenesis imperfecta | − | + | + | − | − | − | − | N/A | N/A |
| Hypermobility of joints | + | + | + | + | + | U | + | N/A | N/A |
| Hearing impairment | − | − | − | − | − | − | − | N/A | N/A |
| Chest deformity | Barrel shaped with pectus excavatum | Bell shaped | Barrel shaped, asymmetrical mild carinatum, increased A‐P diameter | Barrel shaped with pectus excavatum | Barrel shaped with pectus excavatum | + | Bell shaped | − | − |
| Cardiac abnormalities | − | − | mild mitral and tricuspid regurgitation | − | − | + | U | − | − |
| Vertebral fractures | + | − | + | + | + | U | + | N/A | N/A |
| Scoliosis | − | + | + | − | + | + | + | − | − |
| Bowing of upper extremities | + | − | − | − | + | + | + | − | − |
| Bowing of lower extremities | + | − | + | − | + | + | + | + | + |
| Shortening of upper extremities | − | − | − | − | + | + | + | + | + |
| Shortening of lower extremities | + | − | − | − | + | + | + | + | + |
| Surgical correction for bone deformation | − | − | − | + | + | + | + | N/A | N/A |
| Age at BP treatment (start/end) | 4 years 8 months | N/A | 2‐month‐old /still every 6 months | 5/9 years | 29/37 years | N/A | 39/42 years | N/A | N/A |
| BP type and dosage | Pamidronate 0.5 mg/kg monthly for 8 months | N/A | Pamidronate 0.5 mg/kg every 6 months | Neridronate 2 mg/kg body weight, IV, every 3 months | Alendronic acid 70 mg, weekly | N/A | Zoledronate 5 mg, IV, yearly | N/A | N/A |
| DEXA scores before BP treatment | N/A | N/A | N/A | Z score: *L2–L4, −3.7; *TBLH, −1.9 | Z score: *L2–L4, −3.09; *femoral neck (R), −2.05; *trochanter, −2.50 | N/A | U: severe osteoporosis on X‐rays | N/A | N/A |
| DEXA scores after BP treatment | N/A | N/A | N/A | Z score: *L2–L4, −2.4 | Z‐score: *L1–L4, −3.4 | N/A | U | N/A | N/A |
| Calcium—level (mmol/L) | 9.9 | 10.5 | 9.1 | 2.36 | 2.55 | U | 2.49 | N/A | N/A |
| Alkaline phosphatase at first visit (U/L) | N/A | 592 | 261 (normal for age) | 201 | 69 | U | U | N/A | N/A |
| Alkaline phosphatase at last visit (U/L) | 183 | 368 | 159 (normal for age) | 198 | 56 | U | U | N/A | N/A |
| Vascular abnormalities | − | − | − | N/A | N/A | N/A | N/A | N/A | N/A |
| Skin/nail | − | − | − | N/A | N/A | N/A | N/A | N/A | N/A |
| MRI brain | Brachycephaly, otherwise normal | N/A | N/A, CT head was normal | N/A | N/A | N/A | N/A | N/A | N/A |
| Mobility | Crawls | Walks with much support | Walks independently | mobile | Wheelchair since age of 4.5 years | Wheelchair | Wheelchair since age of 18 years | N/A | N/A |
| Intelligence | U | U | U | Normal | Normal | Normal | Normal | N/A | N/A |
| Hypotonia | + | + | + | N/A | N/A | N/A | N/A | N/A | N/A |
| Muscle weakness | Mild | Mild | − | N/A | N/A | N/A | N/A | N/A | N/A |
| Speech delay | − | + | + | N/A | N/A | N/A | N/A | N/A | N/A |
| Motor delay | + | + | + | N/A | N/A | N/A | N/A | N/A | N/A |
| Family miscarriages | − | − | 2 | N/A | N/A | N/A | N/A | N/A | N/A |
Abbreviations: hmz, homozygous; U, unknown; N/A, not applicable; BP, bisphosphonate; TBLH, total body less head.